SNP Shot: Genomic Insights

Multiple mitochondrial dysfunctions syndrome (MMDS) is a condition involving problems with mitochondria, the cell structures responsible for generating energy. Unlike some mitochondrial disorders that affect only one step in energy production, MMDS involves reduced function in multiple steps. This is a severe disorder, with symptoms appearing early in life and a generally short lifespan for affected individuals, often not exceeding infancy.

Infants with MMDS commonly experience severe encephalopathy, leading to hypotonia, seizures, and psychomotor delay. They frequently struggle with failure to thrive. Lactic acidosis, a potentially life-threatening buildup of lactic acid, is common, as are hyperglycinemia and hyperglycemia. Some affected infants may also develop pulmonary hypertension or cardiomyopathy.

Inheritance:

MMDS follows an autosomal recessive inheritance pattern. This means that for a child to be affected, they must inherit a mutated copy of the relevant gene from both parents. The parents, who each carry only one copy of the mutated gene, are usually asymptomatic.